Canonical Allele Identifier: CA376071648

Gene: CACNB2 NSUN6

Linked Data

• MyVariant Identifiers: chr10:g.18828328A>T (hg19) ; chr10:g.18539399A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.18539399A>T , CM000672.2:g.18539399A>T	GRCh38
NC_000010.10:g.18828328A>T , CM000672.1:g.18828328A>T	GRCh37
NC_000010.9:g.18868334A>T	NCBI36
NG_016195.1:g.403723A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000377315.6:c.1514A>T (CACNB2)	ENSP00000366532.4:p.Glu505Val
ENST00000377319.9:c.1379A>T (CACNB2)	ENSP00000366536.3:p.Glu460Val
ENST00000645287.2:c.1502A>T (CACNB2)	ENSP00000496203.1:p.Glu501Val
ENST00000282343.13:c.1574A>T (CACNB2)	ENSP00000282343.8:p.Glu525Val
ENST00000324631.13:c.1658A>T (CACNB2) MANE Select	ENSP00000320025.8:p.Glu553Val
ENST00000377315.5:c.1514A>T (CACNB2)	ENSP00000366532.4:p.Glu505Val
ENST00000377319.8:c.1379A>T (CACNB2)	ENSP00000366536.3:p.Glu460Val
ENST00000377329.10:c.1496A>T (CACNB2) MANE Plus Clinical	ENSP00000366546.4:p.Glu499Val
ENST00000377331.8:c.1283A>T (CACNB2)	ENSP00000366548.4:p.Glu428Val
ENST00000643096.2:c.1460A>T (CACNB2)	ENSP00000494209.2:p.Glu487Val
ENST00000645287.1:c.1502A>T (CACNB2)	ENSP00000496203.1:p.Glu501Val
ENST00000647168.2:c.*799A>T (CACNB2)	ENSP00000495854.2:n.*799A>T
ENST00000650685.1:c.1400A>T (CACNB2)	ENSP00000498460.1:p.Glu467Val
ENST00000651330.1:c.*932A>T (CACNB2)	ENSP00000498457.1:n.*932A>T
ENST00000651468.1:c.1215A>T (CACNB2)	ENSP00000498352.1:n.1215A>T
ENST00000651928.1:c.*897A>T (CACNB2)	ENSP00000499177.1:n.*897A>T
ENST00000652391.1:c.1478A>T (CACNB2)	ENSP00000498938.1:p.Glu493Val
ENST00000652478.1:c.*758A>T (CACNB2)	ENSP00000498812.1:n.*758A>T
ENST00000282343.12:c.1574A>T (CACNB2)	ENSP00000282343.8:p.Glu525Val
ENST00000324631.11:c.1658A>T (CACNB2)	ENSP00000320025.7:p.Glu553Val
ENST00000352115.10:c.1586A>T (CACNB2)	ENSP00000344474.6:p.Glu529Val
ENST00000377315.4:c.1514A>T (CACNB2)	ENSP00000366532.4:p.Glu505Val
ENST00000377319.7:c.1379A>T (CACNB2)	ENSP00000366536.3:p.Glu460Val
ENST00000377328.5:c.908A>T (CACNB2)	ENSP00000366545.1:p.Glu303Val
ENST00000377329.8:c.1496A>T (CACNB2)	ENSP00000366546.4:p.Glu499Val
ENST00000377331.6:c.1502A>T (CACNB2)	ENSP00000366548.2:p.Glu501Val
ENST00000396576.6:c.1493A>T (CACNB2)	ENSP00000379821.2:p.Glu498Val
ENST00000612134.4:c.1362A>T (CACNB2)	ENSP00000480563.1:n.1362A>T
ENST00000612743.1:c.170A>T (CACNB2)	ENSP00000478676.1:p.Glu57Val
ENST00000615785.4:c.743A>T (CACNB2)	ENSP00000480260.1:p.Glu248Val
ENST00000617363.4:c.1421A>T (CACNB2)	ENSP00000479756.1:p.Glu474Val
NM_000724.3:c.1493A>T (CACNB2)	NP_000715.2:p.Glu498Val
NM_001167945.1:c.1460A>T (CACNB2)	NP_001161417.1:p.Glu487Val
NM_201570.2:c.1514A>T (CACNB2)	NP_963864.1:p.Glu505Val
NM_201571.3:c.1574A>T (CACNB2)	NP_963865.2:p.Glu525Val
NM_201572.3:c.1502A>T (CACNB2)	NP_963866.2:p.Glu501Val
NM_201590.2:c.1496A>T (CACNB2)	NP_963884.2:p.Glu499Val
NM_201593.2:c.1544A>T (CACNB2)	NP_963887.2:p.Glu515Val
NM_201596.2:c.1658A>T (CACNB2)	NP_963890.2:p.Glu553Val
NM_201597.2:c.1586A>T (CACNB2)	NP_963891.1:p.Glu529Val
XM_005252588.2:c.1400A>T (CACNB2)	XP_005252645.1:p.Glu467Val
XM_005252591.2:c.818A>T (CACNB2)	XP_005252648.1:p.Glu273Val
XM_006717502.2:c.1478A>T (CACNB2)	XP_006717565.1:p.Glu493Val
XM_011519659.1:c.1424A>T (CACNB2)	XP_011517961.1:p.Glu475Val
XM_011519660.1:c.1379A>T (CACNB2)	XP_011517962.1:p.Glu460Val
NM_001330060.1:c.1379A>T (CACNB2)	NP_001316989.1:p.Glu460Val
XM_005252588.4:c.1400A>T (CACNB2)	XP_005252645.1:p.Glu467Val
XM_005252591.3:c.818A>T (CACNB2)	XP_005252648.1:p.Glu273Val
XM_006717502.3:c.1478A>T (CACNB2)	XP_006717565.1:p.Glu493Val
XM_011519659.2:c.1424A>T (CACNB2)	XP_011517961.1:p.Glu475Val
XM_017016625.1:c.818A>T (CACNB2)	XP_016872114.1:p.Glu273Val
XR_001747060.1:n.2423+2670T>A (NSUN6)
XR_001747198.1:n.1783A>T (CACNB2)
NM_000724.4:c.1493A>T (CACNB2)	NP_000715.2:p.Glu498Val
NM_001167945.2:c.1460A>T (CACNB2)	NP_001161417.1:p.Glu487Val
NM_001330060.2:c.1379A>T (CACNB2)	NP_001316989.1:p.Glu460Val
NM_201570.3:c.1514A>T (CACNB2)	NP_963864.1:p.Glu505Val
NM_201571.4:c.1574A>T (CACNB2)	NP_963865.2:p.Glu525Val
NM_201572.4:c.1502A>T (CACNB2)	NP_963866.2:p.Glu501Val
NM_201590.3:c.1496A>T (CACNB2) MANE Plus Clinical	NP_963884.2:p.Glu499Val
NM_201593.3:c.1544A>T (CACNB2)	NP_963887.2:p.Glu515Val
NM_201596.3:c.1658A>T (CACNB2) MANE Select	NP_963890.2:p.Glu553Val
NM_201597.3:c.1586A>T (CACNB2)	NP_963891.1:p.Glu529Val